eMedicine Specialties > Pediatrics: General Medicine > Dermatology

Nevoid Basal Cell Carcinoma Syndrome: Follow-up

Author: Benjamin Barankin, MD, FRCPC, Dermatologist, Private Practice, Toronto
Coauthor(s): Gary Goldenberg, MD, Assistant Professor of Dermatology, Director Dermatopathology Laboratory, University of Maryland School of Medicine; Gordon E Searles, OD, MD, FRCPC, FACP, Program Director, Clinical Assistant Professor, Department of Medicine, Division of Dermatology and Cutaneous Sciences, University of Alberta Hospital, Edmonton, Canada
Contributor Information and Disclosures

Updated: Mar 13, 2009

Follow-up

Further Outpatient Care

  • For children at risk for inheriting the gene for nevoid basal cell carcinoma syndrome (NBCCS) or those in whom the condition is already diagnosed, regular visits to a dermatologist (every 2-3 mo) are encouraged, particularly during adolescence. Along with physical examination for pitting and other minor features of nevoid basal cell carcinoma syndrome, radiologic evaluation with rib, spine, and skull radiographs to look for abnormalities are indicated, as well as a panoramic radiograph of the jaws once a year in patients aged 8 years and older (or earlier if the child is compliant).
  • Any patient presenting at an unusually young age (<5 y) with a medulloblastoma should be screened for nevoid basal cell carcinoma syndrome. Conversely, patients diagnosed with nevoid basal cell carcinoma syndrome at a young age should be screened for the presence of a medulloblastoma. Regular neurologic surveillance every 6 months with annual MRI of the cerebrum is indicated until children are aged 8 years.
  • Most ovarian fibromas are asymptomatic and almost never become malignant. Initial ultrasonography performed at the preteen stage is advised, and ultrasonographic evaluation should be subsequently undertaken based on symptoms.
  • Along with periocular basal cell carcinomas (BCCs), other ophthalmic manifestations include multiple eyelid cysts, strabismus, myopia, hyperopia, cataracts, and amblyopia. Thus, periodic ophthalmologic examination is warranted.10

Deterrence/Prevention

  • Minimizing or avoiding ultraviolet radiation may lessen the risk of developing BCCs.

Complications

  • Brain and lung invasion and even metastases from BCCs

Prognosis

  • Early death from BCCs is rare but has been reported due to brain and lung invasion and even from metastases.
  • In many cases of metastatic BCCs, early detection can identify solitary lesions that may be amenable to surgical removal. In situations where surgery is not feasible, radiotherapy offers a reasonable palliative option.

Patient Education

  • Education on the importance of minimizing or avoiding ultraviolet radiation may lessen the risk of developing BCCs.
  • For excellent patient education resources, visit eMedicine's Cancer and Tumors Center. Also, see eMedicine's patient education articles Skin Cancer and Skin Biopsy.

Miscellaneous

Medicolegal Pitfalls

  • Failure to refer patients with odontogenic keratocysts to experienced oral-maxillofacial surgeons or otolaryngologists for aggressive treatment
  • Failure to refer patients to a dermatologist when children are at risk for inheriting the gene for nevoid basal cell carcinoma syndrome (NBCCS) or for patients in whom the condition is already diagnosed
  • Failure to educate the patient and/or parents on preventive measures (eg, avoiding ultraviolet radiation)
  • Failure to use MRI instead of CT scanning in detection of medulloblastomas in children younger than 8 years because of the radiation involved in CT scanning
  • Failure to minimize or avoid radiation therapy because more invasive basal cell carcinomas (BCCs) and other tumors result following treatment

Special Concerns

  • In one series conducted by Shanley et al, more than 80% of patients with nevoid basal cell carcinoma syndrome could have been diagnosed within the first 2 decades of life without radiologic imaging.3
 


More on Nevoid Basal Cell Carcinoma Syndrome

Overview: Nevoid Basal Cell Carcinoma Syndrome
Differential Diagnoses & Workup: Nevoid Basal Cell Carcinoma Syndrome
Treatment & Medication: Nevoid Basal Cell Carcinoma Syndrome
Follow-up: Nevoid Basal Cell Carcinoma Syndrome
Multimedia: Nevoid Basal Cell Carcinoma Syndrome
References
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References

  1. Lo Muzio L. Nevoid basal cell carcinoma syndrome (Gorlin syndrome). Orphanet J Rare Dis. Nov 25 2008;3:32. [Medline].

  2. Yamamoto K, Yoshihashi H, Furuya N, et al. Further delineation of 9q22 deletion syndrome associated with basal cell nevus (Gorlin) syndrome: Report of two cases and review of the literature. Congenit Anom (Kyoto). Mar 2009;49(1):8-14. [Medline].

  3. Shanley S, Ratcliffe J, Hockey A, et al. Nevoid basal cell carcinoma syndrome: review of 118 affected individuals. Am J Med Genet. Apr 15 1994;50(3):282-90. [Medline].

  4. Hall J, Johnston KA, McPhillips JP, et al. Nevoid basal cell carcinoma syndrome in a black child. J Am Acad Dermatol. Feb 1998;38(2 Pt 2):363-5. [Medline].

  5. Choudry Q, Patel HC, Gurusinghe NT, Evans DG. Radiation-induced brain tumours in nevoid basal cell carcinoma syndrome: implications for treatment and surveillance. Childs Nerv Syst. Sep 15 2006;[Medline].

  6. Sterry W, Ruzicka T, Herrera E, et al. Imiquimod 5% cream for the treatment of superficial and nodular basal cell carcinoma: randomized studies comparing low-frequency dosing with and without occlusion. Br J Dermatol. Dec 2002;147(6):1227-36. [Medline].

  7. Stockfleth E, Ulrich C, Hauschild A, et al. Successful treatment of basal cell carcinomas in a nevoid basal cell carcinoma syndrome with topical 5% imiquimod. Eur J Dermatol. 2002;12(6):569-72. [Medline].

  8. van der Geer S, Ostertag JU, Krekels GA. Treatment of basal cell carcinomas in patients with nevoid basal cell carcinoma syndrome. J Eur Acad Dermatol Venereol. Dec 19 2008;[Medline].

  9. Campbell RM, Digiovanna JJ. Skin cancer chemoprevention with systemic retinoids: an adjunct in the management of selected high-risk patients. Dermatol Ther. 2006;Sep-Oct;19(5):306-14. [Medline].

  10. Taylor SF, Cook AE, Leatherbarrow B. Review of patients with basal cell nevus syndrome. Ophthal Plast Reconstr Surg. Jul-Aug 2006;22(4):259-65. [Medline].

  11. Bale AE. The nevoid basal cell carcinoma syndrome: genetics and mechanism of carcinogenesis. Cancer Invest. 1997;15(2):180-6. [Medline].

  12. Caccialanza M, Percivalle S, Piccinno R. Possibility of treating basal cell carcinomas of nevoid basal cell carcinoma syndrome with superficial x-ray therapy. Dermatology. 2004;208(1):60-3. [Medline].

  13. Chiritescu E, Maloney ME. Acrochordons as a presenting sign of nevoid basal cell carcinoma syndrome. J Am Acad Dermatol. May 2001;44(5):789-94. [Medline].

  14. Gorlin RJ. Nevoid basal cell carcinoma (Gorlin) syndrome. Genet Med. Nov-Dec 2004;6(6):530-9. [Medline].

  15. Kimonis VE, Goldstein AM, Pastakia B, et al. Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. Am J Med Genet. Mar 31 1997;69(3):299-308. [Medline].

  16. Korczak JF, Brahim JS, DiGiovanna JJ, et al. Nevoid basal cell carcinoma syndrome with medulloblastoma in an African-American boy: a rare case illustrating gene-environment interaction. Am J Med Genet. Mar 31 1997;69(3):309-14. [Medline].

  17. Manfredi M, Vescovi P, Bonanini M, Porter S. Nevoid basal cell carcinoma syndrome: a review of the literature. Int J Oral Maxillofac Surg. Mar 2004;33(2):117-24. [Medline].

  18. Pastorino L, Cusano R, Baldo C, et al. Nevoid Basal Cell Carcinoma Syndrome in infants: improving diagnosis. Child Care Health Dev. May 2005;31(3):351-4. [Medline].

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Further Reading

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Keywords

nevoid basal cell carcinoma syndrome, NBCCS, Gorlin syndrome, basal cell nevus syndrome, BCNS, Gorlin-Goltz syndrome, multiple basal cell nevi, PTCH gene, basal cell carcinoma, BCC, medulloblastomas, ovarian fibromas, fibrosarcomas, rhabdomyosarcomas, meningiomas, cardiac fibromas, jaw cysts, palmar pits, macrocephaly, jaw swelling, keratocysts, cleft palate, spina bifida occulta, pectus deformity, spinal abnormalities, hypogonadism, kidney anomalies, acromegaly, malocclusion

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Contributor Information and Disclosures

Author

Benjamin Barankin, MD, FRCPC, Dermatologist, Private Practice, Toronto
Benjamin Barankin, MD, FRCPC is a member of the following medical societies: American Academy of Dermatology, American Society for Dermatologic Surgery, Canadian Dermatology Association, Canadian Medical Association, International Society of Dermatology, Ontario Medical Association, Royal College of Physicians and Surgeons of Canada, and Women's Dermatologic Society
Disclosure: Nothing to disclose.

Coauthor(s)

Gary Goldenberg, MD, Assistant Professor of Dermatology, Director Dermatopathology Laboratory, University of Maryland School of Medicine
Gary Goldenberg, MD is a member of the following medical societies: American Academy of Dermatology and American Society of Dermatopathology
Disclosure: Graceway Pharmaceuticals LLC Consulting fee Consulting

Gordon E Searles, OD, MD, FRCPC, FACP, Program Director, Clinical Assistant Professor, Department of Medicine, Division of Dermatology and Cutaneous Sciences, University of Alberta Hospital, Edmonton, Canada
Gordon E Searles, OD, MD, FRCPC, FACP is a member of the following medical societies: Alberta Medical Association, American College of Physicians-American Society of Internal Medicine, Canadian Medical Association, College of Physicians and Surgeons of Alberta, Pacific Dermatologic Association, and Royal College of Physicians and Surgeons of Canada
Disclosure: Nothing to disclose.

Medical Editor

Kevin P Connelly, DO, Clinical Assistant Professor, Department of Pediatrics, Division of General Pediatrics and Emergency Care, Virginia Commonwealth University; Medical Director, Paws for Health Pet Visitation Program of the Richmond SPCA; Pediatric Emergency Physician, Emergency Consultants Inc, Chippenham Medical Center
Kevin P Connelly, DO is a member of the following medical societies: American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

Robert A Schwartz, MD, MPH, Professor and Head, Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, UMDNJ-New Jersey Medical School
Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American College of Physicians, and Sigma Xi
Disclosure: Nothing to disclose.

CME Editor

Merrily P M Poth, MD, Professor, Department of Pediatrics and Neuroscience, Uniformed Services University of the Health Sciences
Merrily P M Poth, MD is a member of the following medical societies: American Academy of Pediatrics, Endocrine Society, and Lawson-Wilkins Pediatric Endocrine Society
Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD, Director, Department of Dermatology, Geisinger Medical Center
Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.

 
 
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